Mutagenetix > Incidental Mutation

Incidental Mutation 'R7749:Slc22a6'

597127

Institutional Source

Beutler Lab

Gene Symbol

Slc22a6

Ensembl Gene

ENSMUSG00000024650

Gene Name

solute carrier family 22 (organic anion transporter), member 6

Synonyms

mOat1, Orctl1, NKT, Oat1

MMRRC Submission

045805-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R7749 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8595403-8605663 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8599260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 297 (K297R)

Ref Sequence

ENSEMBL: ENSMUSP00000010250 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010250]

AlphaFold

Q8VC69

Predicted Effect

possibly damaging
Transcript: ENSMUST00000010250
AA Change: K297R

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000010250
Gene: ENSMUSG00000024650
AA Change: K297R

Domain	Start	End	E-Value	Type
Pfam:MFS_1	107	467	2.4e-25	PFAM
Pfam:Sugar_tr	107	512	8e-33	PFAM
low complexity region	520	531	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (66/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in the sodium-dependent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and may be localized to the basolateral membrane. Four transcript variants encoding four different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene may result in increased thymus weight or impaired renal organic anion excretion for a subset of organic anions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr1a	A	T	19: 46,368,186 (GRCm39)	S254T	probably benign	Het
Adam12	G	A	7: 133,826,542 (GRCm39)	A22V	unknown	Het
Adarb2	A	G	13: 8,619,775 (GRCm39)	D87G	possibly damaging	Het
Aldh6a1	A	T	12: 84,488,855 (GRCm39)	I59N	probably benign	Het
Ankrd50	C	T	3: 38,536,870 (GRCm39)	C161Y	probably damaging	Het
Ankrd7	A	G	6: 18,879,515 (GRCm39)		probably null	Het
Anks1	T	A	17: 28,257,115 (GRCm39)	I707N	probably damaging	Het
Atoh1	A	T	6: 64,706,904 (GRCm39)	M200L	possibly damaging	Het
Bmp1	C	T	14: 70,730,284 (GRCm39)	R416H	probably damaging	Het
Caprin1	A	G	2: 103,602,099 (GRCm39)	S548P	probably benign	Het
Ccdc167	T	A	17: 29,924,247 (GRCm39)	Y63F	possibly damaging	Het
Cfap99	T	A	5: 34,465,284 (GRCm39)	D174E	probably benign	Het
Chil3	T	G	3: 106,056,161 (GRCm39)	N331T	probably benign	Het
Chmp5	T	A	4: 40,949,488 (GRCm39)	I35N	probably damaging	Het
Cpt1c	A	T	7: 44,611,689 (GRCm39)	S537T	probably benign	Het
Dctn1	A	T	6: 83,163,123 (GRCm39)		probably benign	Het
Dhx57	T	A	17: 80,546,287 (GRCm39)	M1366L	probably benign	Het
Dnah9	T	A	11: 65,802,656 (GRCm39)	Y3478F	probably damaging	Het
Efna3	A	G	3: 89,223,947 (GRCm39)	Y81H	probably damaging	Het
Eif4enif1	T	C	11: 3,192,608 (GRCm39)	V812A	probably damaging	Het
Erg	A	T	16: 95,178,216 (GRCm39)	I237N	probably benign	Het
Fem1c	G	T	18: 46,657,185 (GRCm39)	N176K	probably damaging	Het
Fgd4	T	C	16: 16,293,018 (GRCm39)	Y233C	probably benign	Het
Foxd2	G	A	4: 114,765,009 (GRCm39)	A337V	unknown	Het
Gsdma2	T	C	11: 98,548,547 (GRCm39)	L433P	unknown	Het
Hmcn2	C	A	2: 31,343,045 (GRCm39)		probably null	Het
Hnrnpul2	T	C	19: 8,797,788 (GRCm39)	V48A	probably benign	Het
Hsf1	T	A	15: 76,383,387 (GRCm39)	S396T	probably benign	Het
Htr5b	G	T	1: 121,455,487 (GRCm39)	N144K	probably damaging	Het
Igkv9-120	T	C	6: 68,027,172 (GRCm39)	S29P	probably damaging	Het
Igsf10	T	A	3: 59,236,549 (GRCm39)	N1211Y	possibly damaging	Het
Kcnh1	A	C	1: 191,959,447 (GRCm39)	I334L	probably benign	Het
Laptm4b	T	C	15: 34,276,346 (GRCm39)	I158T	probably benign	Het
Mgat4f	A	T	1: 134,318,250 (GRCm39)	M341L	probably benign	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Nav3	T	C	10: 109,539,213 (GRCm39)	T2063A	probably damaging	Het
Nceh1	T	A	3: 27,261,531 (GRCm39)	D47E	probably benign	Het
Nckap5	A	G	1: 125,952,383 (GRCm39)	S1390P	probably damaging	Het
Npepps	T	G	11: 97,158,454 (GRCm39)	I104L	probably benign	Het
Numb	A	G	12: 83,848,051 (GRCm39)	S229P	not run	Het
Opn1sw	T	A	6: 29,380,168 (GRCm39)	I83F	probably benign	Het
Or13p4	T	C	4: 118,547,425 (GRCm39)	S75G	probably damaging	Het
Or5b95	A	T	19: 12,657,576 (GRCm39)	I35F	probably benign	Het
Or5l13	G	A	2: 87,779,822 (GRCm39)	H252Y	probably damaging	Het
Pigg	T	G	5: 108,484,162 (GRCm39)	C603G	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pkhd1l1	C	A	15: 44,391,133 (GRCm39)	H1504N	probably benign	Het
Plcd4	A	G	1: 74,604,292 (GRCm39)	N757D	possibly damaging	Het
Ppia	A	G	11: 6,369,569 (GRCm39)	T152A	probably benign	Het
Psmd8	G	A	7: 28,878,346 (GRCm39)		probably null	Het
Pxn	T	A	5: 115,686,575 (GRCm39)	Y356N	probably benign	Het
Rhoa	G	C	9: 108,213,914 (GRCm39)	C159S	probably damaging	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rita1	C	T	5: 120,749,506 (GRCm39)	C69Y	probably benign	Het
Satb1	A	G	17: 52,074,961 (GRCm39)	S512P	possibly damaging	Het
Sectm1b	A	G	11: 120,945,768 (GRCm39)	I191T	possibly damaging	Het
Snrnp48	T	C	13: 38,405,263 (GRCm39)	Y287H	probably benign	Het
Sntg2	A	T	12: 30,276,910 (GRCm39)	C381S	probably benign	Het
Syngap1	T	A	17: 27,178,938 (GRCm39)	M649K	probably damaging	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Thap2	T	C	10: 115,212,289 (GRCm39)	I79V	probably damaging	Het
Thap7	T	C	16: 17,346,467 (GRCm39)	N172S	probably benign	Het
Ticrr	A	G	7: 79,328,844 (GRCm39)	Y661C	possibly damaging	Het
Ttn	T	C	2: 76,606,659 (GRCm39)	N18084D	probably damaging	Het
Usp48	A	T	4: 137,377,728 (GRCm39)	K1020M	probably damaging	Het
Vmn2r12	T	C	5: 109,233,920 (GRCm39)	N764S	probably damaging	Het
Vmn2r91	A	G	17: 18,356,540 (GRCm39)	I736V	possibly damaging	Het
Wfdc6b	T	A	2: 164,459,339 (GRCm39)	C134S	probably damaging	Het
Zcchc2	A	T	1: 105,946,003 (GRCm39)	D481V	probably damaging	Het
Zfp949	G	A	9: 88,451,923 (GRCm39)	G498R	probably damaging	Het

Other mutations in Slc22a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00773:Slc22a6	APN	19	8,599,232 (GRCm39)	missense	probably benign	0.14
IGL00825:Slc22a6	APN	19	8,595,721 (GRCm39)	missense	possibly damaging	0.94
IGL01362:Slc22a6	APN	19	8,598,572 (GRCm39)	missense	possibly damaging	0.69
IGL01843:Slc22a6	APN	19	8,603,578 (GRCm39)	utr 3 prime	probably benign
IGL02583:Slc22a6	APN	19	8,600,980 (GRCm39)	missense	possibly damaging	0.79
R1004:Slc22a6	UTSW	19	8,595,763 (GRCm39)	missense	probably damaging	1.00
R1775:Slc22a6	UTSW	19	8,596,471 (GRCm39)	critical splice donor site	probably null
R1911:Slc22a6	UTSW	19	8,599,246 (GRCm39)	missense	probably benign
R2365:Slc22a6	UTSW	19	8,596,761 (GRCm39)	missense	probably benign
R3406:Slc22a6	UTSW	19	8,598,675 (GRCm39)	missense	probably damaging	1.00
R4106:Slc22a6	UTSW	19	8,595,874 (GRCm39)	missense	probably benign
R4693:Slc22a6	UTSW	19	8,601,016 (GRCm39)	missense	probably damaging	1.00
R5094:Slc22a6	UTSW	19	8,603,541 (GRCm39)	missense	probably damaging	1.00
R5347:Slc22a6	UTSW	19	8,595,917 (GRCm39)	missense	possibly damaging	0.94
R5360:Slc22a6	UTSW	19	8,596,786 (GRCm39)	missense	probably damaging	1.00
R5667:Slc22a6	UTSW	19	8,599,148 (GRCm39)	critical splice acceptor site	probably null
R5810:Slc22a6	UTSW	19	8,601,222 (GRCm39)	missense	probably damaging	1.00
R6176:Slc22a6	UTSW	19	8,599,161 (GRCm39)	missense	probably damaging	1.00
R6336:Slc22a6	UTSW	19	8,599,494 (GRCm39)	missense	probably benign	0.02
R6864:Slc22a6	UTSW	19	8,595,805 (GRCm39)	missense	probably damaging	1.00
R6954:Slc22a6	UTSW	19	8,599,460 (GRCm39)	missense	probably benign	0.02
R7298:Slc22a6	UTSW	19	8,598,684 (GRCm39)	missense	possibly damaging	0.49
R7305:Slc22a6	UTSW	19	8,599,522 (GRCm39)	critical splice donor site	probably null
R7681:Slc22a6	UTSW	19	8,603,493 (GRCm39)	missense	probably benign	0.03
R7937:Slc22a6	UTSW	19	8,601,253 (GRCm39)	missense	probably benign	0.07
R8346:Slc22a6	UTSW	19	8,599,169 (GRCm39)	missense	probably damaging	1.00
R8347:Slc22a6	UTSW	19	8,599,169 (GRCm39)	missense	probably damaging	1.00
R8348:Slc22a6	UTSW	19	8,599,169 (GRCm39)	missense	probably damaging	1.00
R8363:Slc22a6	UTSW	19	8,596,386 (GRCm39)	missense	probably benign
R8698:Slc22a6	UTSW	19	8,600,889 (GRCm39)	missense	probably benign
R9431:Slc22a6	UTSW	19	8,598,596 (GRCm39)	missense	probably benign	0.10
R9602:Slc22a6	UTSW	19	8,598,560 (GRCm39)	nonsense	probably null
R9774:Slc22a6	UTSW	19	8,603,134 (GRCm39)	missense	probably benign	0.00
Z1088:Slc22a6	UTSW	19	8,599,197 (GRCm39)	missense	probably benign	0.03
Z1176:Slc22a6	UTSW	19	8,600,907 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- GCTCTGGTCCCCAAAACATAG -3'
(R):5'- TTTAGAGTCAGTTCCTTCTGCAG -3'

Sequencing Primer
(F):5'- TGCATACCTCTAACCCAGAAGACTG -3'
(R):5'- CAGTTCCTTCTGCAGGCTGG -3'

Posted On

2019-11-26